Associated Papers
Clinical and Laboratory Characteristics of Patients with Genetic Rickets: A Single-Center Experience with Long-Term Outcomes.
Köprülü Ö et al.
Turkish Archives of Pediatrics, 2025
Genotype, Phenotype Characteristics and Long-Term Follow-Up of Patients with Vitamin D-Dependent Rickets Type IA: A Nationwide Multi-Centre Retrospective Cross-Sectional Study.
Cayir A et al.
Hormone Research in Paediatrics, 2025
Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in Vietnam.
Tran TAT et al.
Diagnostics (basel, Switzerland), 2025
A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family.
Toral López J et al.
Diseases (basel, Switzerland), 2024
Siblings with vitamin D-dependent rickets type 1A: Importance of genetic testing and a review of genotype-phenotype correlations.
Wang LK et al.
American Journal of Medical Genetics. Part A, 2024
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Méaux MN et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Lifelong deformities in an adult caused by vitamin D‑dependent rickets type 1A: A case report.
Yi C et al.
Experimental and Therapeutic Medicine, 2022
Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.
Kaygusuz SB et al.
Calcified Tissue International, 2021
Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I.
Tahir S et al.
Hormone Research in Paediatrics, 2016
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